Canonical Allele Identifier: CA514925591
Gene: TRMU HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.46748211T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46352314T>A , CM000684.2:g.46352314T>A GRCh38
NC_000022.10:g.46748211T>A , CM000684.1:g.46748211T>A GRCh37
NC_000022.9:g.45126875T>A NCBI36
NG_012173.1:g.21914T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465378.6:n.804T>A
ENST00000642923.1:c.651T>A ENSP00000494255.1:p.Val217=
ENST00000643137.1:c.651T>A ENSP00000495331.1:p.Val217=
ENST00000644006.1:c.*200T>A ENSP00000493778.1:n.*200T>A
ENST00000645026.1:n.807T>A
ENST00000645190.1:c.756T>A MANE Select ENSP00000496496.1:p.Val252=
ENST00000647301.1:c.*200T>A ENSP00000496641.1:n.*200T>A
ENST00000290846.8:c.756T>A ENSP00000290846.4:p.Val252=
ENST00000381019.3:c.756T>A ENSP00000370407.3:p.Val252=
ENST00000381021.7:c.*349T>A ENSP00000370409.3:n.*349T>A
ENST00000441818.5:c.*290T>A ENSP00000393014.1:n.*290T>A
ENST00000453630.5:c.*294T>A ENSP00000398488.1:n.*294T>A
ENST00000456595.5:c.*290T>A ENSP00000413880.1:n.*290T>A
ENST00000457572.5:c.*200T>A ENSP00000407700.1:n.*200T>A
ENST00000463785.1:n.224T>A
ENST00000485175.5:n.716T>A
ENST00000486620.5:n.798T>A
NM_001282782.1:c.414T>A NP_001269711.1:p.Val138=
NM_001282783.1:c.336T>A NP_001269712.1:p.Val112=
NM_001282784.1:c.336T>A NP_001269713.1:p.Val112=
NM_001282785.1:c.756T>A NP_001269714.1:p.Val252=
NM_018006.4:c.756T>A NP_060476.2:p.Val252=
NR_104240.1:n.1065T>A
NR_104241.1:n.958T>A
XM_005261678.1:c.360T>A XP_005261735.1:p.Val120=
XM_005261681.1:c.360T>A XP_005261738.1:p.Val120=
XM_011530271.1:c.651T>A XP_011528573.1:p.Val217=
XM_011530272.1:c.756T>A XP_011528574.1:p.Val252=
XM_011530273.1:c.756T>A XP_011528575.1:p.Val252=
XM_011530274.1:c.414T>A XP_011528576.1:p.Val138=
XM_011530275.1:c.360T>A XP_011528577.1:p.Val120=
XM_011530271.2:c.651T>A XP_011528573.1:p.Val217=
XM_011530272.2:c.756T>A XP_011528574.1:p.Val252=
XM_011530273.2:c.756T>A XP_011528575.1:p.Val252=
XM_011530274.2:c.414T>A XP_011528576.1:p.Val138=
XM_024452260.1:c.651T>A XP_024308028.1:p.Val217=
XR_001755261.2:n.802T>A
XR_001755262.2:n.802T>A
NM_018006.5:c.756T>A MANE Select NP_060476.2:p.Val252=
NM_001282782.2:c.414T>A NP_001269711.1:p.Val138=
NM_001282783.2:c.336T>A NP_001269712.1:p.Val112=
NM_001282784.2:c.336T>A NP_001269713.1:p.Val112=
NM_001282785.2:c.756T>A NP_001269714.1:p.Val252=
NR_104240.2:n.752T>A
NR_104241.2:n.645T>A